Results 331 to 340 of about 292,600 (397)

Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next

Movement Disorders, EarlyView.
Abstract Knowledge of the genetic factors in normal pressure hydrocephalus (NPH) is rapidly evolving, with significant advances in recent years. We conducted a systematic review examining genetic contributions to NPH risk. Ovid Embase, Ovid Medline, Web of Science, and Cochrane Central were searched from inception through October 14, 2024, for human ...
Camila C. Piccinin, Saar Anis, Jeryl Ritzi T. Yu, Philippe A. Salles, Henry Mauricio Chaparro‐Solano, Avery Kundrick, Shelley Ivary, James Y. Liao, Sean J. Nagel, Ignacio F. Mata   +9 more
wiley   +1 more source

Optimization of the intron sequences combined with the CMV promoter increases recombinant protein expression in CHO cells. [PDF]

Sci Rep
Xu TT, Wang YF, Yuan JJ, Mi CL, Geng SL, Wang XY, Wang TY.   +6 more
europepmc   +1 more source

Interactive Bioinformatics Lab: Using Genomic Databases for Active Learning in Dentistry

Journal of Dental Education, EarlyView.
François Isnaldo Dias Caldeira, Raquel Mantuaneli Scarel‐Caminaga   +1 more
wiley   +1 more source

Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia

Movement Disorders, EarlyView.
Abstract Long‐read sequencing methodologies provide powerful capacity to identify all types of genomic variations in a single test. Long‐read platforms such as Oxford Nanopore and PacBio have the potential to revolutionize molecular diagnostics by reaching unparalleled accuracies in genetic discovery and long‐range phasing.
Thomas Wirth, Kishore R. Kumar, Michael Zech   +2 more
wiley   +1 more source

Comprehensive functional splicing analysis of non‐canonical CNGB3 variants using in vitro minigene splice assays

The Journal of Pathology, EarlyView.
Abstract Variants in the CNGB3 gene, encoding the B3‐subunit of the cone photoreceptor cyclic nucleotide gated channel, are a major cause of autosomal recessive achromatopsia, a rare inherited retinal disease. The mutation spectrum of achromatopsia‐associated CNGB3 variants comprises all types of mutations, including those that are straightforward to ...
Katharina Rawnsley, Nicole Weisschuh, Susanne Kohl, Peggy Reuter   +3 more
wiley   +1 more source

Connecting genotype and phenotype in minor spliceosome diseases. [PDF]

RNA
Norppa AJ, Shcherbii MV, Frilander MJ.
europepmc   +1 more source

Clinical Outcome and Risk Factors for Progression of Prenatally Diagnosed Fetal Ventriculomegaly: A Retrospective Multicenter Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the clinical outcome of fetuses with ventriculomegaly (VM), and to identify risk factors for progression of fetal VM in order to improve prenatal counseling. This was a multicenter, retrospective cohort study, comprising 229 cases with VM.
Anouk Moens, Zoe Albersnagel, Marieke B. Veenhof, Phebe N. Adama van Scheltema, Esther Sikkel, Mariëtte J. V. Hoffer, Brigitte H. W. Faas, Dineke Westra, Ilse Feenstra, Emilia K. Bijlsma, Gijs W. E. Santen, Corrie E. Erasmus, Cacha M. P. C. D. Peeters‐Scholte   +12 more
wiley   +1 more source

Complete analysis and phylogenetic analysis of Polygonatum sibiricum mitochondria. [PDF]

BMC Plant Biol
Liu M, Fan R, Wang C, Dai L, Chu S.
europepmc   +1 more source

A complex response element in intron 1 of the androgen-regulated 20-kDa protein gene displays cell type-dependent androgen receptor specificity

, 1993

openalex   +2 more sources

Plasticity of Gene Expression in Spaceflight and Postflight in Relation to Cardiovascular Disease: Mechanisms and Candidate Repurposed Drugs

PROTEOMICS, EarlyView.
ABSTRACT Spaceflight poses unique challenges to human health due to exposure to increased levels of cosmic radiation, microgravity, and associated oxidative stress. These environmental factors can lead to cellular damage, inflammation, and a range of health complications, including cardiovascular problems, immune system impairment, and an increased ...
Marilena M. Bourdakou, Eleni M. Loizidou, George M. Spyrou   +2 more
wiley   +1 more source